|Institutional Source||Beutler Lab|
|Gene Name||polyribonucleotide nucleotidyltransferase 1|
|Synonyms||PNPase, polynucleotide phosphorylase, 1200003F12Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1769 (G1)|
|Chromosomal Location||29130744-29161828 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 29154159 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 540 (N540D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020756 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020756]|
|PDB Structure||Solution structure of the alpha-helical domain from mouse hypothetical PNPase [SOLUTION NMR]|
|Predicted Effect||probably benign
AA Change: N540D
PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: N540D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1198|
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pnpt1||
(F):5'- CGATTGAACAGCAATCAAGCAGCAG -3'
(R):5'- GGAACAAGGCACACTGACTTACCTG -3'
(F):5'- CAGAGGTGGCTCTTTGCATTTAAC -3'
(R):5'- ACACTGACTTACCTGACGCTTG -3'